Linked Data
dbSNP Id:
rs762331906
ExAC:
12:103271216 T / G
gnomAD v2:
12-103271216-T-G
gnomAD v3:
12-102877438-T-G
gnomAD v4:
12-102877438-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102877438T>G , CM000674.2:g.102877438T>G | GRCh38 |
| NC_000012.11:g.103271216T>G , CM000674.1:g.103271216T>G | GRCh37 |
| NC_000012.10:g.101795346T>G | NCBI36 |
| NG_008690.1:g.45165A>C | |
| NG_008690.2:g.85973A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.441+24A>C MANE Select | ENSP00000448059.1:n.441+24A>C | |
| ENST00000307000.7:c.426+24A>C | ENSP00000303500.2:n.426+24A>C | |
| ENST00000549111.5:n.537+24A>C | ||
| ENST00000550978.6:c.449A>C | ||
| ENST00000551988.5:n.530+24A>C | ||
| ENST00000553106.5:c.441+24A>C | ENSP00000448059.1:n.441+24A>C | |
| NM_000277.1:c.441+24A>C | NP_000268.1:n.441+24A>C | |
| XM_011538422.1:c.441+24A>C | XP_011536724.1:n.441+24A>C | |
| NM_000277.2:c.441+24A>C | NP_000268.1:n.441+24A>C | |
| NM_001354304.1:c.441+24A>C | NP_001341233.1:n.441+24A>C | |
| XM_017019370.2:c.441+24A>C | XP_016874859.1:n.441+24A>C | |
| NM_000277.3:c.441+24A>C MANE Select | NP_000268.1:n.441+24A>C | |
| NM_001354304.2:c.441+24A>C | NP_001341233.1:n.441+24A>C |